March is Women’s History Month. This is an excellent opportunity to celebrate the amazing women making an impact across the leukodystrophy community, a small selection of which are featured below. While we cannot possibly include everyone, we are incredibly grateful for the dedication, passion, and hard work of all the women supporting and advancing leukodystrophy research, medicine and care.
Dr. Geneviève Bernard, MD, M.Sc., FRCP
Full Professor, Departments of Neurology and Neurosurgery, Pediatrics, and Human Genetics, at McGill University
Dr. Bernard and her team, together with her international collaborators, discovered four of the genes responsible for 4H leukodystrophy. She has published more than 150 peer-reviewed publications, including the largest clinical, radiological, and genetic characterization studies on 4H leukodystrophy, in collaboration with numerous international collaborators.
Using 4H as her primary disease of interest, her comprehensive research program aims to describe these disorders by discovering gene mutations that cause the illness, characterizing how these mutations lead to disease on a molecular level (pathophysiology), describing how leukodystrophies evolve over time and impact patients and families and their quality of life, and find disease-modifying therapies. Together, this will improve medical care, ensure that we have sufficient data for upcoming therapeutic trials, and lead to effective treatments.
Dr. Bernard is the Chair of the Scientific Advisory Board of the United Leukodystrophy Foundation. She is the first woman, the first Canadian and the youngest individual in this position.
Laura Campbell
Chief Medical Officer, Orchard Therapeutics
In her role as chief medical officer at Orchard Therapeutics, Laura leads a skilled team of professionals in clinical development, medical affairs, diagnostics, newborn screening, and patient advocacy. She drives Orchard’s progress in early- and late-stage clinical development of the company’s next-in-line gene therapies for the treatment of Hurler, Sanfilippo, and NOD2 Crohn’s disease, the expansion of newborn screening for metachromatic leukodystrophy (MLD) and the medical leadership for the commercialization of OTL-200 for the treatment of early-onset MLD.
Dr Lydia Green
Paediatric Neurologist, Leeds Children’s Hospital
Having trained as a paediatric neurologist under the supervision of Professor John Livingston at Leeds Teaching Hospitals Trust, Lydia gained a wealth of experience in the diagnosis and management of leukodystrophy before taking over as joint lead for the Inherited White Matter Disorders Service for the North of England in 2023.
Alongside her clinical work she is undertaking a part-time PhD investigating the neurogenetics of inherited leukodystrophies, developing bioinformatic pipelines for patients where NHS whole genome sequencing has not found a cause.
Dr Noémie Hamilton
Lecturer in Neuroscience, Department of Biology, University of York
Dr Hamilton pioneered the use of zebrafish to model white matter disorder and published the first leukodystrophy zebrafish model. Lead and co-founder of the first UK leukodystrophy research network LEUKOLABS, Noémie is an advocate for leukodystrophy research.
Now at the University of York, the Hamilton Lab is part of the York Biomedical Research Institute and continues to focus on neurological disease modelling using zebrafish, concentrating on the interaction between brain immune cells, the microglia, and their environment with an aim of developing new therapies.
Dr Cheryl Hemingway
Paediatric Neurologist, Great Ormond Street Hospital
Dr Cheryl Hemingway has been a Consultant Paediatric Neurologist for over 25 years and has been a full time Neurology Consultant at Great Ormond Street Children’s Hospital (GOSH) from 2006.
Her PhD from Imperial College, London used RNA array technology to explore the host immune response to brain inflammation, and she has used the expertise gained from this to provide specialised clinical care to children with rare acquired and inherited white matter disorders.
She leads the national Inherited White Matter Disorders Service at GOSH as well as the highly specialist Neuroinflammatory Disease Service. She runs a joint clinic with rheumatology caring for patients with both brain and systemic inflammation, such as those with Aicardi Goutieres Syndrome (AGS). She is also research active, with a number of recent important publications and has been PI and Co-PI at GOSH for both AGS and MS trials.
Jordana Holovach
Vice President, Head of Communications and Community at Myrtelle
Jordana Holovach is Vice President, Head of Communications and Community at Myrtelle, overseeing communications, brand management, and community advocacy. She joined in 2021 with over 20 years of leadership experience in the non-profit and rare disease sector, including founding Jordana Holovach Communications, which helped non-profits and patient groups with marketing, PR, social media, advocacy, and brand strategy.
Her career began in public relations at top New York firms, but shifted when her first child, Jacob, was diagnosed with Canavan disease, a leukodystrophy. From 2000-2014, she led Jacob’s Cure, the non-profit she founded to fund research and raise awareness for Canavan. She built a strong board, key partnerships, and legislative support, while connecting with the NIH and FDA to advance research.
Her personal experience with Canavan disease inspired her advocacy for gene therapy trials, helping secure FDA approvals and Jacob’s enrollment in the first U.S. gene therapy trial for a brain-based disorder. This deep understanding of rare diseases fuels her passion at Myrtelle, helping patients access treatments and hope.
Dr Swati Naik
Genetic Consultant, Birmingham Children’s Hospital
Dr Naik has been working as a Consultant Clinical Geneticist at Birmingham Women’s and Children’s Hospital for the last 10 years.
Dr Naik is passionate about obtaining genetic diagnosis in various Rare disorders and her areas of interest are: Paediatric Neurology and Neurometabolic, Paediatric Developmental disorders and Dysmorphology. Dr Naik is also experienced in diagnosis of monogenic disorders in acute settings and has an extensive experience of diagnosing and managing babies and children with a genetic diagnosis in Neonatal Intensive and Paediatric Intensive Care settings. She is a Lead for Rapid Genome Sequencing service for West Midlands. She is co-chair and organiser of cross- regional dysmorphology and audit meetings.
Dr Naik works in close collaboration with the Paediatric Neurology and Metabolic team to deliver the care for Inherited White matter disorder patients.
Kathleen O’Sullivan-Fortin
Co-founder of ALD Connect
Kathleen is a symptomatic woman with ALD and an ALD mom. Kathleen has taken on roles as a patient advocate, industry liaison, developer of programming, and facilitator of many events. Kathleen has served on the FDA’s Cellular, Tissue and Gene Therapies Advisory Committee, the ALD Family Weekend planning committee, the NIH RDCRN CPAG committee, the EveryLife Foundation RDLA, the Alliance of Regenerative Medicine Patient Advocacy Committee, the CPSA Analytics Charitable Foundation, and the ALD Connect Industry Advisory Council.
Dr Srividya Sreekantam
Paediatric Consultant, Birmingham Children’s Hospital
Dr Srividya Sreekantam is a consultant in Paediatric Inherited Metabolic Disorders at the Birmingham Women’s and Children’s Hospital NHS Trust [BWC], United Kingdom, since 2017. She is an honorary consultant in the Paediatric Metabolic Service for South Wales, since 2022 and a clinician representative in the metabolic clinical reference group [CRG].
Her major interests include quality improvement and patient experience, and she led on the national patient experience workstream for the Lysosomal Storage Disorders’ Service. She enjoys her collaborative work with patient support organisations such as the AGSD [Association of Glycogen Storage Disorders] and the MSUK [Metabolic Support UK] and an active member on the working group committee for the ‘’Think Ammonia’’ campaign organised by the MSUK. She is the metabolic representative from BWC, for the National Inherited White Matter disorders service and works along with three other metabolic consultants in providing expert input to the service.
Laura Rodriguez
Director of Biology, Minoryx Therapeutics
Laura holds a bachelor’s degree in Biology and a PhD in Human Molecular Genetics from the Universitat de Barcelona. She has more than 15 years of experience in scientific research in the field of rare diseases including lysosomal storage disorders and neurodegenerative and mitochondrial diseases. Since 2017 she has been contributing to the development of leriglitazone for the treatment of orphan CNS disorders (genetic diseases with no current drug treatment). She has co-authored several publications including journals, reviews and patents.
Michelle Teng
Chief Scientific Officer, Executive Director and Co-Founder of SynaptixBio
Michelle is a science entrepreneur and rare disease advocate. She is the Founder CEO of Oxford based technology start-up, Etcembly. Michelle also co-founded the H-ABC Foundation, a charity, following the diagnosis of H-ABC in her daughter, to raise awareness of the disease and accelerate gene therapy treatments for H-ABC.
Prof. Marjo van der Knaap – retired
Marjo van der Knaap is an adult and paediatric neurologist, employed at Amsterdam UMC from 1991 to 2025. She was head of paediatric neurology. In 2000 she founded the Amsterdam Leukodystrophy Center. Since 1987, her research was focused on leukodystrophies. She developed MRI pattern recognition to facilitate diagnostics in leukodystrophies and applied it to define numerous novel leukodystrophies, including vanishing white matter (VWM). She and her group identified numerous mutated genes for newly defined leukodystrophies, including VWM. Her research contributed to insight into VWM pathophysiology and therapy targets. She initiated the first therapeutic trial in VWM.
Dr. Adeline Vanderver
Attending Physician in in the Division of Neurology, Program Director of the Leukodystrophy Center, and Jacob A. Kamens Endowed Chair in Neurologic Disorders and Translational Neurotherapeutics at Children’s Hospital of Philadelphia.
Dr. Vanderver has helped to identify the genetic causes of a number of leukodystrophies using next-generation sequencing.
Under Dr. Vanderver’s leadership, the multidisciplinary Leukodystrophy Center team is focused on creating new standards of care for children with leukodystrophies by advancing leukodystrophy gene discovery, creating new therapies, and supporting and advocating for patients and their families.
In parallel with this strong clinical program, Dr. Vanderver’s preclinical and clinical research projects will aim to discover molecular therapeutics that target the genetics of leukodystrophy subtypes.
Dr Amy Waldman
Medical Director of the Leukodystrophy Center and a pediatric neurologist at Children’s Hospital of Philadelphia
Dr. Waldman’s primary research focuses on the development and interpretation of outcome measures for clinical trials in neuroinflammatory and neurodegenerative diseases and in 2015 extending her work to leukodystrophies.
Dr. Waldman’s work extends to research and clinical trials, she has contributed significantly to the understanding and treatment of leukodystrophies. She is leading a natural history study on Alexander disease. Dr Waldman is the principal investigator for an Alexander disease biomarker project for an NIH U54 Rare Diseases Clinical Research Network grant. As a member of the Global Leukodystrophy Initiative (GLIA), she is an active participant on their natural history and biorepository task forces.
Prof. Nicole Wolfe
ANS – Cellular & Molecular Mechanisms Affiliate VU Pediatric Neurology Full Professor, Pediatric Neurology, Amsterdam UMC
Professor Wolf started to work on leukodystrophies in 2000 and moved in 2008 to the Center for Childhood White Matter Disorders, Amsterdam. She mainly works with metachromatic leukodystrophy (MLD) and hypomyelinating diseases (HLDs), having identified several new HLDs including 4H leukodystrophy. Regarding MLD, she focuses on disease and treatment mechanisms, using MRI, biomarkers and brain tissue. Her team also investigate genotype-phenotype relationships.
HLDs are a group of heterogeneous leukodystrophies, with a wide variation in clinical presentation and late, slow neurodegeneration. Her research tries to understand the different presentations and process of degeneration, using advanced MR techniques and biomarkers.
